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Human Mutation|February 24, 2011
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfectaKatarina Lindahl, Aileen M Barnes, Nadja Fratzl-Zelman, et al.American Journal of Human Genetics|September 15, 2015
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaSofie Symoens, Aileen M Barnes, Charlotte Gistelinck, et al.Human Molecular Genetics|April 19, 2017
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eyeYaqun Zou, Sandra Donkervoort, Antti M Salo, et al.American Journal of Human Genetics|March 19, 2013
Mutations in WNT1 cause different forms of bone fragilityKatharina Keupp, Filippo Beleggia, Hülya Kayserili, et al.Autophagy|February 26, 2021
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1Daniel J Klionsky, Amal Kamal Abdel-Aziz, Sara Abdelfatah, et al.Pageof 4